Overview

Location [1]
17q25.3
Protein [2]
E3 ubiquitin-protein ligase RNF213
Synonyms [1]
MYSTR, NET57, KIAA1618, MYMY2, C17orf27, ALO17

Ring finger protein 213 (RNF213) is a gene that encodes a protein that functions in mediating protein-protein interactions. The protein also possesses ATPase activity. Fusions, missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, peritoneal cancer, and pituitary cancer.

RNF213 is altered in 0.32% of all cancers with high grade ovarian serous adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

RNF213 GENIE Cases - Top Diseases

The most common alterations in RNF213 are RNF213-ALK Fusion (0.08%), RNF213-NTRK1 Fusion (0.05%), RNF213 A1844T (0.48%), RNF213 P1721L (0.70%), and RNF213 A1221V (0.41%) [3].

RNF213 GENIE Cases - Top Alterations

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.